Variant report

Variant	rs61848450
Chromosome Location	chr10:50346970-50346971
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:50346301-50349044	IMR90	lung:	n/a	n/a
2	MAFK	chr10:50346394-50348464	IMR90	lung:	n/a	n/a
3	RAD21	chr10:50346399-50348752	IMR90	lung:	n/a	chr10:50347071-50347084
4	CEBPB	chr10:50346425-50347498	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50345704..50347282-chr10:50347596..50350389,2	K562	blood:
2	chr10:50341771..50344266-chr10:50346312..50348663,3	K562	blood:

Variant related genes	Relation type
FAM170B	TF binding region
ENSG00000172538	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11100987	0.95[ASN][1000 genomes]
rs12247475	1.00[ASN][1000 genomes]
rs12264188	1.00[ASN][1000 genomes]
rs4433499	1.00[ASN][1000 genomes]
rs4550152	1.00[ASN][1000 genomes]
rs4838369	1.00[ASN][1000 genomes]
rs4838448	1.00[ASN][1000 genomes]
rs4838450	1.00[ASN][1000 genomes]
rs59598256	1.00[ASN][1000 genomes]
rs61848422	1.00[ASN][1000 genomes]
rs6537498	1.00[ASN][1000 genomes]
rs7068519	0.90[ASN][1000 genomes]
rs7895377	1.00[ASN][1000 genomes]
rs7904486	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50342200-50347000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
4	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:50344000-50347600	Weak transcription	Right Ventricle	heart
6	chr10:50344200-50347600	Weak transcription	Esophagus	oesophagus
7	chr10:50344200-50352200	Weak transcription	Fetal Thymus	thymus
8	chr10:50344400-50347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:50345600-50347000	Weak transcription	K562	blood
10	chr10:50345600-50349600	Enhancers	Fetal Muscle Leg	muscle
11	chr10:50345800-50349000	Enhancers	Fetal Stomach	stomach
12	chr10:50345800-50349200	Enhancers	Fetal Muscle Trunk	muscle
13	chr10:50346200-50347200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:50346200-50347400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:50346200-50347400	Enhancers	NH-A	brain
16	chr10:50346200-50349000	Enhancers	Adipose Nuclei	Adipose
17	chr10:50346200-50349800	Enhancers	NHLF	lung
18	chr10:50346200-50354400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:50346400-50347000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr10:50346400-50347400	Enhancers	HSMM	muscle
21	chr10:50346400-50347600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:50346400-50347800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr10:50346400-50349600	Enhancers	Ovary	ovary
24	chr10:50346600-50347400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr10:50346600-50347600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:50346600-50348800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:50346600-50349600	Enhancers	HSMMtube	muscle
28	chr10:50346600-50350600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:50346800-50347000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr10:50346800-50347800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:50346800-50347800	Flanking Active TSS	Osteobl	bone
32	chr10:50346800-50348000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:50346800-50348000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr10:50346800-50348000	Enhancers	Duodenum Mucosa	Duodenum
35	chr10:50346800-50348000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr10:50346800-50348200	Enhancers	Stomach Smooth Muscle	stomach
37	chr10:50346800-50348800	Enhancers	Right Atrium	heart
38	chr10:50346800-50349000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr10:50346800-50349000	Enhancers	Left Ventricle	heart
40	chr10:50346800-50349000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr10:50346800-50349200	Enhancers	Placenta	Placenta
42	chr10:50346800-50351800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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